ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Autoinflammatory diseases unit, CHU de Montpellier and "likely pathogenic" from any submitter

Minimum review status of the submission from Autoinflammatory diseases unit, CHU de Montpellier: Collection method of the submission from Autoinflammatory diseases unit, CHU de Montpellier:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_001291415.2(KDM6A):c.3991C>T (p.Arg1331Ter) rs863224886
NM_001330311.2(DVL1):c.1687_1691dup (p.Ser564fs) rs1553173372
NM_001372066.1(TFAP2A):c.773C>T (p.Ala258Val) rs151344531
NM_003482.4(KMT2D):c.12469C>T (p.Gln4157Ter) rs1555188080
NM_003482.4(KMT2D):c.14189G>A (p.Trp4730Ter) rs1555186527
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs) rs398123744
NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.8053C>T (p.Arg2685Ter) rs587783727
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
NM_003482.4(KMT2D):c.9961C>T (p.Arg3321Ter) rs793888512

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